Boris Yamrom

PAXIP1-PAGR1 directs cohesin recruitment during break-induced telomere repair

The paper identifies PAXIP1-PAGR1 as essential for cohesin recruitment during break-induced telomere repair and shows their role in ALT-mediated telomere maintenance.

The Genotype and Phenotypes in Families (GPF) platform manages the large and complex data at SFARI

The GPF platform manages and analyzes large family genotypic and phenotypic data for autism research, enabling variant analysis and secure data sharing.

Snakeobjects: an object-oriented workflow management system

Snakeobjects extends Snakemake to simplify workflow development, improve readability, and maintain portability and scalability.

De novo indels within introns contribute to ASD incidence

The paper identifies de novo intronic indels in autism target genes from simplex families and finds they contribute to at least 10% of simplex autism.